[Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype]
1Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia. hmpachajoa@icesi.edu.co
Abstract:
We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fingers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.
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